Genetic testing to enhance multiple myeloma treatment

Multiple myeloma is the second most common blood cancer, but most people haven’t heard of it until they or someone they know is diagnosed with the disease. March is Myeloma Action Month — a time to focus attention on the fight against multiple myeloma.

Mayo Clinic is making significant advances with an individualized medicine approach. In recent years, Mayo researchers and others have uncovered a wealth of information about the genetic mutations that help multiple myeloma cells survive and multiply. Now, Mayo Clinic has translated those discoveries into clinical testing to personalize care.

Keith Stewart, M.B., Ch.B.

“Multiple myeloma has some of the most advanced genomic information available among all cancers. We have condensed that large genomic database into a test panel to detect genetic mutations that have relevance to prognosis and to optimal drug therapies for individual patients,” says Keith Stewart, M.B., Ch.B., a multiple myeloma specialist and director of the Mayo Clinic Center for Individualized Medicine (CIM).

The test panel, available through Mayo Medical Laboratories, uses next-generation sequencing to pinpoint genetic mutations within an individual’s tumor. The mutations make an individual likelier to respond to — or likelier to resist — the effects of a particular drug.

“The panel will detect mutations that have relevance to prognosis, to drug sensitivity and resistance, and to the different types of myeloma that might be present in the patient’s sample,” Dr. Stewart says. “That helps us understand whether we need to raise the intensity of the therapy, whether we’re able to eradicate certain elements of the tumor over time, whether drug resistance is emerging and — critically — helps us to identify precision therapies when certain mutations are present.”

Multiple myeloma cells have the ability to evolve rapidly, changing their genetic profiles over time. Certain genetic subtypes of multiple myeloma respond poorly to treatment. One type of chromosome abnormality linked to multiple myeloma is a mismatching of chromosome parts known as chromosomal translocation.

“In the next few months, the test panel will also be able to tell us the chromosomal translocations that are present in the tumor,” Dr. Stewart says. “We can already do that in the research laboratory, and we’ll soon translate that to the clinical lab.”

Moving the ball forward

The individualized-medicine approach to multiple myeloma has yielded a major development in precision therapy. New treatments have recently been found to be effective for multiple myeloma involving a certain chromosomal translocation.

Mayo Clinic is working towards other breakthroughs, building on its history as a global leader in multiple myeloma. That history dates back to the 1960s and the work of Robert A. Kyle, M.D., who continues to be an active researcher at Mayo Clinic.

“We’re building on Dr. Kyle’s long tradition,” Dr. Stewart says. “We have a very deep and strong myeloma group, both clinically and in the research domain, along with our strong presence in individualized medicine. We’ve also been blessed by our collaboration with the Multiple Myeloma Research Foundation. Mayo is working with the Foundation on one of the largest genomic studies of any cancer that’s ever been done.”

As a major clinical and research center, with a global patient population, Mayo Clinic has compiled a significant database on multiple myeloma. “Over the past 50 years, we have collected information on patients as well as 45,000 to 50,000 patient samples,” Dr. Stewart says.

“We’ve made great progress over the past five years in developing an individualized medicine approach to treating multiple myeloma,” he adds. “Our commitment to patient care, along with a plethora of clinical trials and investigative laboratory work, will allow us to continue to move the ball forward.”